Integrative Approaches to Understanding the Pathogenic Role of Genetic Variation in Rheumatic Diseases

Rheum Dis Clin North Am. 2017 Aug;43(3):449-466. doi: 10.1016/j.rdc.2017.04.012.


The use of high-throughput omics may help to understand the contribution of genetic variants to the pathogenesis of rheumatic diseases. We discuss the concept of missing heritability: that genetic variants do not explain the heritability of rheumatoid arthritis and related rheumatologic conditions. In addition to an overview of how integrative data analysis can lead to novel insights into mechanisms of rheumatic diseases, we describe statistical approaches to prioritizing genetic variants for future functional analyses. We illustrate how analyses of large datasets provide hope for improved approaches to the diagnosis, treatment, and prevention of rheumatic diseases.

Keywords: GWAS; Genetics; Integrative genomics; Precision medicine; Rheumatic disease; Systems biology.

Publication types

  • Review

MeSH terms

  • Genetic Variation
  • Humans
  • Rheumatic Diseases / genetics*